NM_002180.3(IGHMBP2):c.1803C>T (p.Val601=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003793687.2
Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1803C>T (p.Val601=)]
NM_002180.3(IGHMBP2):c.1803C>T (p.Val601=)
Condition(s)
- Name:
- Autosomal recessive distal spinal muscular atrophy 1
- Synonyms:
- HMN VI; SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC; Spinal muscular atrophy with respiratory distress 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011436; MedGen: C1858517; Orphanet: 98920; OMIM: 604320
-
plectin isoform 1c [Homo sapiens]
plectin isoform 1c [Homo sapiens]gi|47607492|ref|NP_000436.2|Protein
-
Mus musculus epiplakin 1, mRNA (cDNA clone IMAGE:4188338), partial cds
Mus musculus epiplakin 1, mRNA (cDNA clone IMAGE:4188338), partial cdsgi|20071353|gb|BC026387.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024